Genomic variant #0000171553

Individual ID 00105504
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) g.193614803_193614820del
Published as 112_139del18
ISCN -
DB-ID OPA1_000082 See all 9 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature
Reference PubMed: Thiselton 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.113_130del - r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 +/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105975 DNA SEQ Blood - OPA1 1 Marc Ferre